Understanding Sickle Cell Disease

A genetically inherited ailment, sickle cell disease is common in Africa and South Asia. India ranks third among the countries in which sickle cell disease is prevalent. According to studies, 15,000 to 25,000 babies are born every year in India with genetically inherited sickle cell disease. Sickle cell disease is a group of blood disorders in which the red blood cells turn round to crescent or sickle-shaped. These red blood cells are rigid and prohibit proper blood circulation, leading to many different symptoms like severe episodes of pain, anemia, organ damage and, in some cases, even premature death. Understanding the gravity of this condition can aid in better research and help formulate treatment options. This blog will explore sickle cell disease and understand its symptoms and management methods. 

Symptoms of Sickle Cell Disease 

Sickle cell disease is caused by a mutation in the HBB gene, which codes for hemoglobin. When abnormal hemoglobin is formed, red blood cells become sticky, leading to many symptoms. The symptoms are as follows: 

 Anemia: In sickle cell disease, red blood cells can break down prematurely, die, and cause a shortage. This leads to weakness in the body of the affected person. Usually, red blood cells have a lifespan of 120 days. However, in sickle cell disease, due to the red blood cells changing their shape, it dies in about 10-20 days, and this can lead to anemia. The body doesn’t get enough oxygen and gets fatigued. Low hemoglobin can also cause shortness of breath and pale skin. 

Episodes of pain: One of the most defining symptoms of sickle cell disease is intense pain. When sickle-shaped blood cells flow through the chest, joints, and abdomen, these episodes of pain can last from a few hours to days. If the pain is chronic, the affected patient can experience pain from time to time due to damage in the body. 

 Swelling of hands and feet: Lack of proper blood circulation due to the sickle-shaped red blood cells can lead to swelling, especially in the feet and hands. This swelling of the hands and feet is a common early sickle cell disease symptom seen in infants. 

Frequent infections: This is a common sickle cell disease symptom. People with sickle cell disease are more prone to infections due to compromised immune systems. The spleen plays a crucial role in infection prevention. The spleen may sustain damage from sickle cells, increasing the likelihood of infections. Vaccinations and antibiotics are frequently administered to infants and young children with sickle cell anemia to prevent potentially fatal ailments like pneumonia.

 Delayed growth or puberty: This is one of the sickle cell disease symptoms that can be seen during puberty. Compared to their contemporaries, sickle cell disease patients frequently have slower growth and delayed puberty. The body gets oxygen and nutrition from red blood cells, which are essential for development. Inadequate red blood cell production can impede the development of infants and children and postpone adolescent puberty.

 Vision problems: The next symptom of sickle cell disease is vision problems. Sickle cells can clog the tiny arteries that supply the eyes’ blood. This may cause vision issues in sickle cell disease patients by harming the retina, the area of the eye responsible for processing visual pictures. 

 Severe Complications of Sickle Cell Disease

Sickle cell disease can lead to several complications which can severely impact the quality of life and affect a person’s overall health. Some sickle cell disease complications are as follows.  

1. Acute Chest Syndrome: Acute chest syndrome is a life-threatening condition that affects a person’s lung function, leading to fever and pain and making it difficult for the patient to breathe. This complication is often triggered by infection, inflammation and blockage of lung blood vessels. 
2. Stroke: Sickle shaped red blood cells can severely affect proper flow of blood to the brain. This can lead to stroke. 
3. Organ Damage: Organ damage can result from recurrent periods of low oxygen levels and chronic blood flow obstruction in sickle cell disease. This can cause sickle disease symptoms, including harm to the liver, kidneys, spleen, and eyes. Numerous consequences, such as renal failure and visual issues, may result from this injury.

Managing Sickle Cell Disease Symptoms

1. Pain Management: Over-the-counter pain medications are commonly used to treat mild pain associated with sickle cell disease. For moderate and severe pain, prescription pain medications are used. For sickle cell disease treatment, hydroxyurea, another pain medication and treatment option works by increasing fetal hemoglobin levels in the red blood cells. This promotes blood flow, aids in the RBCs’ return to their natural form, and guards against side effects including excruciating sickle cell crises.
2. Hydration: Dehydration can trigger sickle cell crises. Drinking plenty of water is essential to keep blood vessels open and reduce the risk of pain episodes.
3. Preventing Infections: Infections can be prevented through non-medication approaches and can also be used apart from pain medications to avoid illnesses. Drinking fluids helps keep blood vessels open and reduces the risk of pain episodes. Applying heat to painful areas can also relieve pain. Gentle exercises and physical therapy help manage chronic pain and improve mobility. Psychological support and CBT can help with sickle cell disease symptoms. 

Other than this, it is also important to avoid triggers like stress, dehydration and extreme temperatures that can increase the risk of pain episodes. Get regular checkups and maintain a healthy lifestyle to keep your overall health in check.  

FAQs

1. What is Sickle Cell Disease?

A class of hereditary red blood cell abnormalities known as sickle cell disease (SCD) is defined by the production of hemoglobin S (HbS), an aberrant form of hemoglobin. Red blood cells with this aberrant hemoglobin have a stiff, sticky form resembling sickles or crescent moons. These sickle-shaped cells have the ability to obstruct blood flow and degrade too soon, which can cause a number of health issues.

2. What are the main symptoms of Sickle Cell Disease?

Some of the symptoms of sickle cell disease are anemia, frequent infections, weakness in the body, swelling of the hands and feet, occasional episodes of intense pain, vision problems, and delayed growth.

3. How is Sickle Cell Disease diagnosed?

Sickle cell disease is diagnosed through a blood test called hemoglobin electrophoresis. This blood test distinguishes between the various forms of hemoglobin in the blood and is commonly used to identify sickle cell disease symptoms.

4. How can pain from Sickle Cell Disease be managed?

Pain from sickle cell disease can be managed through pain medications that are available over the counter for mild or moderate pain. Hydroxyurea, a pain medication, can be commonly used to reduce the frequency and severity of pain episodes.